For Symptoms Involving: Development, Hearing, Musculoskeletal System, Nervous System, Vision
Number of Alleles Tested: 114 | |
Condition | Gene(s) |
Chondrodysplasia 1-7 | ACAN, EVC2, FGFR3 |
Pulmonary Hypoplasia and Anasarca Syndrome (PHA) | ADAMTS3 |
Contractural Arachnodactyly (Fawn calf syndrome) | ADAMTSL3 |
Arthrogryposis Multiplex Congenita (Curly Calf Syndrome) 1-3 | AGRN, CHRNB1, PIGH |
Tibial Hemimelia 1, 2 | ALX4 |
Cholesterol Deficiency (CD) | APOB |
Citrullinemia | ASS1 |
Congenital Muscular Dystonia 1 (CMD1) | ATP2A1 |
Congenital Pseudomyotonia 1, 2 (PMT 1, 2) | ATP2A1 |
Maple Syrup Urine Disease 1, 2 (MSUD 1, 2) | BCKDHA |
Seckel-like Syndrome (SHGC) | CEP250 |
Neurocristopathy | CHD7 |
Myasthenic Syndrome | CHRNE |
Osteopetrosis with gingival hamartomas 1, 2 | CLCN7, SLC4A2 |
Renal Tubular Dysplasia (RTD1, 2) 1, 2 | CLDN16 |
Neuronal Ceroid Lipofuscinosis 5 (NCL5) | CLN5 |
Osteogenesis Imperfecta Type II 1, 2 | COL1A1 |
Achondrogenesis Type II 1-7 (Bulldog calf syndrome 1-7) | COL2A1 |
Morgagnian Cataract | CPAMD8 |
Marfan Syndrome (MFS) 1, 2 | FBN1 |
Facial Dysplasia Syndrome | FGFR2 |
Trimethylaminuria | FMO3 |
Generalized Glycogenosis Type II 1-3 | GAA |
Dwarfism 1-4 | GH1, GON4L, PRKG2, RNF11 |
Myoclonus | GLRA1 |
Diaphragmatic Muscle Myopathy (HMDM) | HSPA1A |
Perinatal Weak Calf Syndrome | IARS |
Immunodeficiency | IL17RA |
Leukocyte Adhesion Deficiency | ITGB2 |
Lethal Multi-Organ Developmental Dysplasia | KDM2B |
Spinal Muscular Atrophy | KDSR |
Hypomyelinogenesis | KIF1C |
Hypotrichosis 2 | KRT71 |
Congenital Muscular Dystonia 2 (CMD2) | SLC6A5 |
Syndactyly 1-5 | LRP4 |
Alpha-Mannosidosis 1, 2 | MAN2B1 |
Beta-Mannosidosis 1 | MANBA |
Degenerative Axonopathy | MFN2 |
Microphthalmia | MITF |
Dominant White with Bilateral Deafness 1, 2 | MITF |
Xanthinuria Type II 1, 2 | MOCOS |
Arachnomelia 1, 2 | MOCS1, SUOX |
Crooked Tail Syndrome 1, 2 | MRC2 |
Double Muscling 1-9 | MSTN |
Arthrogryposis Type 1B | MYBPC1 |
Mucopolysaccharidosis IIIB | NAGLU |
Polymelia and Neural Tube Defects | NHLRC2 |
Cataracts | NID1 |
Niemann-Pick Disease Type 1 | NPC1 |
Abortion 11, 12 | OBFC1, PFAS |
Dilated Cardiomyopathy | OPA3 |
Zinc Deficiency-Like Syndrome | PLD4 |
Progressive Degenerative Myeloencephalopathy | PNPLA8 |
Cardiomyopathy | PPP1R13L |
Bovine Spongiform Encephalopathy | PRNP |
Glycogen Storage Disease V | PYGM |
Interdigital Hyperplasia | ROR2 |
Retinitis Pigmentosa | RP1 |
Tetradysmelia | RSPO2 |
Fanconi-Bickel Syndrome | SLC2A2 |
Turning Calves Syndrome | SLC25A46 |
Complex Vertebral Malformation 1, 2 | SLC35A3 |
Spinal Dysmyelination | SPAST |
Vertebral and Spinal Dysplasia | T |
PIRM Syndrome | UBE3B |
Multiple Ocular Defects (MOD) | WFDC1 |
Polled and Multisystemic Syndrome (PMS) 1, 2 | ZEB2 |
Frontonasal Dysplasia 1 | ZIC2 |